ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827052612
Gene: KIF1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208161
ClinVar RCV Id:
RCV000191021
RCV000207040
RCV000997715
RCV003223396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307634.1:p.Arg216His
CA204977
NM_001320705.2:c.647G>A